New customized drug is giving young girl suffering from rare brain disease new hope for cure

WASHINGTON - A little girl suffering from a rare and deadly brain disease is now finding hope after doctors made a major medical breakthrough in the form of a special customized drug.

When she was younger, Mila Makovec had a perfectly healthy start to her life.

“When Mila was a toddler, she was a climber, she was a hiker, she was a runner,” said her mother Julia Vitarello.

However, at around 3 years old, Mila began showing signs that something was off. Her feet started to turn in slightly.

Fast forward to 5 years old, she could barely stand without losing her balance. Her vision began to go, she became blind and lost the ability to speak.

It was an excruciating few years for her and her family.

Finally in 2016, at the age of 6, Mila was diagnosed with Batten disease, a rare brain disorder from a genetic flaw that is fatal.

“It's kind of like dementia combined with Parkinson’s symptoms, combined with seizures, epilepsy and blindness,” said Mila’s mother. “And no child has ever lived with it before.”

Vitarello and her husband were told their 2-year-old son had a 25 percent chance of having Batten disease as well. But in the midst of despair, they took action and the results have been record-breaking.

“It's kind of surreal for me to read the headlines in newspapers this week – her disease might have been stopped by treatment,” Vitarello said.

Vitarello, who has a background in marketing, used social media and GoFundMe to raise a $3 million for a clinical trial. She posted pleas for anyone to help and the stars aligned.

One of her Facebook messages made it to Dr. Timothy Yu in Boston. He brought her news she never thought she would hear.

“We found the underlying mutation [and] your son does not have the disease – and I couldn’t even express words to describe what I felt then,” said Vitarello. “And then he paused and he said I have an idea of how I may be able to help your daughter.”

She calls Yu a pioneer. In record time, he helped to develop a drug uniquely designed just for Mila and her gene mutation. They call it Milasen and it has stopped the disease in its tracks.

“From what I have heard from the scientific community, this is something that has been dreamed about for decades,” Vitarello said.

“Using the information in your DNA to make a personalized treatment is really a big deal and it actually gives hope to other patients who have rare disorders,” said Dr. Andrea Gropman, the division chief of neurodevelopmental pediatrics and neurogenetics at Children’s National in Washington D.C.

Gropman said they see three or four cases of Batten disease each year. She added Mila's parents have set an amazing example.

“Being able to align yourself with physicians actually doing the research,” Gropman said. “The internet has really opened that up for parents to find researchers who are interested in their child’s disease.”

Mila is now stable and even seems to be progressing – going from 30 seizures a day to less than half that.

“She has said a few words, which is exciting,” said her mother. “She says 'Anna,' which is her favorite character from ‘Frozen.’ We all light up when she says it. … She is just so excited that we understood her.”

For a disease that no one has ever survived, there is now hope.

“We may have added a potential tool in the toolbox, which needs to be explored more, but it could help a lot of people, a lot of children,” said Vitarello.

While it is not known if Mila will ever regain her vision, her mother said she gets a lot of joy from listening to the songs from her favorite movie.